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2018 ; 62
(1
): 64-71
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Leber s hereditary optic neuropathy - Case report
#MMPMID29796436
Iorga RE
; Mihailovici R
; Ozturk MR
; Costin D
Rom J Ophthalmol
2018[Jan]; 62
(1
): 64-71
PMID29796436
show ga
Leber's hereditary optic neuropathy is the most common mitochondrial condition
and is characterized by bilateral, painless, subacute visual loss that develops
during young adult life. LHON is a rare condition and this lack of knowledge can
make doctors suspect and treat for other causes of vision loss. Typically, a
series of tests are performed to confirm LHON diagnosis or exclude any other
conditions. We presented the case of two brothers, HB, of 40 years old and HF, of
38 years old, who presented with a decrease in visual acuity in both eyes. The
patients had been diagnosed with optic atrophy of unknown cause a long time ago,
but no further investigations were made. They were treated with corticosteroids,
antioxidants and vasodilators, but with no significant benefit. A blood test of
the mitochondrial DNA, a magnetic resonance imaging and an optic coherence
tomography of the optic nerve and macula were part of the following assessment of
our patients. The mitochondrial DNA analyses revealed the 3460 G>A mutation on
the mtND1 gene in both patients. Based on the medical history, the fundus aspect,
the optic coherence tomography and the paraclinical investigations of the
diagnosis of Leber's hereditary optic neuropathy were established in both
patients. We started the treatment with idebenone and we evaluated the patients
after three months. ABBREVIATIONS: LHON = Leber's hereditary optic neuropathy,
mtDNA = mitochondrial DNA, VA = visual acuity, CF = count fingers, OCT = optical
coherence tomography, RNFL = retinal nerve fiber layer, GCL = ganglion cells
layer, MS = multiple sclerosis, MRI = magnetic resonance imaging, MTI =
magnetization transfer imaging, MTR = magnetization transfer ratio.
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